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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **9776 - 9800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050387	nonpapillary renal cell carcinoma	FLCN	201163	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060698	hyperekplexia 3 Aliases: HKPX3	SLC6A5	9152	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081369	Paget's disease of bone 6 Aliases: Paget disease of bone-6	ZNF687	57592	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111694	familial adult myoclonic epilepsy 7 Aliases: BAFME7 FAME7 FCMTE7 benign adult familial myoclonic epilepsy 7 familial cortical myoclonic tremor and epilepsy 7	RAPGEF2	9693	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111745	cerebellar ataxia type 43 Aliases: SCA43	MME	4311	Homo sapiens (human)	Alliance of Genome Resources
DOID:2560	morphine dependence	ADRA2A AGO2 BAX BDNF COMT CREB1 DRD2 FADD FOS FOSB GAD1 GRIA1 NCAM1 NGF NPSR1 NR3C2 POMC	1312 1385 150 1813 2353 2354 2571 27161 2890 387129 4306 4684 4803 5443 581 627 8772	Homo sapiens (human)	Alliance of Genome Resources
DOID:224	transient cerebral ischemia Aliases: TIA TIA - Transient ischaemic attack Transient cerebral ischaemia Transient ischemic attacks transient ischemic attack	ACVRL1 ADAMTS1 ADAMTS4 AGER AGT AHR AIFM1 ANK1 ANK2 APOE AQP4 ATF2 ATP5F1B BACE1 BAX C3 CAMK2A CASP7 CASP9 CBL CCL2 CCNH CCR6 CDK5 CHKA CREB1 CSF3 CX3CL1 DAXX DBN1 DLL4 DUSP16 EIF2S1 ELANE ELK1 ENTPD1 EP300 EPO ERCC6 ESR1 F11R F12 FADD FAS FGFR1 FGFR2 FMR1 FTO G6PD GAD1 GAD2 GHSR GLRX GLUL GOT1 GPX3 GRIN2A GRIN2B H2AX HAVCR2 HIF1A HNRNPA2B1 HNRNPAB HRH2 HSF1 HSPA5 HSPA8 HSPB1 HTT ICAM1 IFNB1 IKBKB IL10 IL1RN ITGAM ITGB3 ITPR1 JAK1 KCNK2 KDM1A KLF5 KMT2A LCN2 LMNA LPAR1 LTBP1 MADD MAP2K4 MBD3 MBP MCFD2 MDM2 MECP2 MFF MMP2 MMP9 MT1E MT1H MT2A MTOR NAMPT NEFH NEFL NEFM NF1 NFKB1 NGFR NOS1 NOS3 NOTCH1 NOX1 NRG1 NRP1 NRXN1 OGG1 OPA1 OPTN PARP1 PAWR PCNA PLAT PLAU PLXND1 PPARG PPP1R15A PPP1R9A PTAFR PTEN PTGER4 PTGIS PTPN13 RACK1 ROBO1 ROBO2 RPS6 SEMA3E SERPINE1 SERPINF1 SIN3A SIRT6 SLC12A2 SLC17A6 SLC17A8 SLIT2 SMPD3 SOD1 SOD2 STAT3 TERT TFPI TIAL1 TNF TNFRSF1A TRPC6 UCP2 VWF WNK1 WNK2 XRCC1	10133 10135 1020 10399 1119 1235 1385 1386 142 1440 1616 1627 177 183 1902 196 1965 1991 2002 2033 2056 2074 2099 2161 2260 2263 23028 23129 2332 23621 23645 246213 2475 2539 2571 2572 25942 2693 27035 2745 2752 2805 286 287 2878 2903 2904 3014 3064 3084 3091 3181 3182 3274 3297 3309 3312 3315 3383 3456 348 355 3551 3557 3586 361 3684 3690 3708 3716 3776 3934 4000 4052 4155 4193 4204 4297 4313 4318 4493 4496 4502 4741 4744 4747 4763 4790 4804 4842 4846 4851 4968 4976 5054 506 5074 50848 5111 51548 5176 5327 5328 53615 54567 5468 55512 55607 56947 57084 5724 5728 5734 5740 5783 581 6091 6092 6194 6347 6376 6416 65125 65268 6558 6647 6648 6774 688 7015 7035 7073 7124 7132 718 7225 7351 7450 7515 79068 80824 815 840 842 84868 8567 867 8772 8829 902 90411 9131 9353 9378 94 9507 9510 953 9723	Homo sapiens (human)	Alliance of Genome Resources
DOID:3362	coronary aneurysm Aliases: Aneurysm of coronary vessels Aneurysmal lesion of coronary artery Arteriovenous aneurysm of coronary vessels	ADIPOQ MMP12	4321 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:4500	hypokalemia Aliases: hypopotassemia potassium deficiency disorder	AKR1B1 RHCG	231 51458	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111037	glycine N-methyltransferase deficiency Aliases: GNMT deficiency hypermethioninemia due to GNMT deficiency hypermethioninemia due to glycine N-methyltransferase deficiency	GNMT	27232	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	B4GAT1 COL4A1 CRPPA FKRP FKTN POMGNT1 POMT1 POMT2 RXYLT1	10329 10585 11041 1282 2218 29954 55624 729920 79147	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0112140	retinitis pigmentosa 83 Aliases: RP83	ARL3	403	Homo sapiens (human)	Alliance of Genome Resources
DOID:11371	functional diarrhea Aliases: functional diarrhoea	FOS	2353	Homo sapiens (human)	Alliance of Genome Resources
DOID:13139	crescentic glomerulonephritis	CCL2 CSF1R FCGR2A IL1RN JUND MMP12 MMP3 MMP9 MTOR	1436 2212 2475 3557 3727 4314 4318 4321 6347	Homo sapiens (human)	Alliance of Genome Resources
DOID:4253	melorheostosis	MAP2K1	5604	Homo sapiens (human)	Alliance of Genome Resources
DOID:11633	thyroid hormone resistance syndrome Aliases: Generalized thyroid hormone resistance Refetoff syndrome Thyroid hormone responsiveness defect thyroid hormone resistance	NCOA1 THRA	7067 8648	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070453	xanthinuria type II Aliases: XAN2	MOCOS	55034	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111801	syndromic microphthalmia 3 Aliases: AEG syndrome MCOPS3 SOX2 anophthalmia syndrome anophthalmia clinical with associated anomalies anophthalmia esophageal genital syndrome anophthalmia microphthalmia esophageal atresia anophthalmia/microphthalmia-esophageal atresia syndrome microphthalmia and esophageal atresia syndrome syndromic microphthalmia type 3	SOX2	6657	Homo sapiens (human)	Alliance of Genome Resources
DOID:3181	oligodendroglioma Aliases: oligodendroglial neoplasm oligodendroglial tumor	EGF MGMT PTGES3 RB1	10728 1950 4255 5925	Homo sapiens (human)	Alliance of Genome Resources
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	B3GAT2 BMP4 CTHRC1 FAS FOXP1 GPX3 GPX7 IGFBP3 MKI67 MMP12 MMP1 MSR1 MUC2 PTGES PTGS2 SMO	115908 135152 27086 2878 2882 3486 355 4288 4312 4321 4481 4583 5743 652 6608 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060355	amyotrophic lateral sclerosis type 22 Aliases: ALS 22 amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia amyotrophic lateral sclerosis 22	TUBA4A	7277	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081151	common variable immunodeficiency 8 Aliases: common variable immunodeficiency-8 (CVID8) with autoimmunity	LRBA	987	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080941	acquired angioedema	F12 F2 F7 XPNPEP2	2147 2155 2161 7512	Homo sapiens (human)	Alliance of Genome Resources
DOID:574	peripheral nervous system disease	ARTN LTC4S TLR3	4056 7098 9048	Homo sapiens (human)	Alliance of Genome Resources
DOID:14764	Larsen syndrome Aliases: dominant larsen syndrome	FLNB	2317	Homo sapiens (human)	Alliance of Genome Resources

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